ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420558
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001929846
ClinVar Variation:
1365523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gly1400Ser
CA394301372
NM_001370405.1:c.4198G>A